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rs397509000

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397509000(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092836
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509000
dbSNP (classic)rs397509000
ClinGenrs397509000
ebirs397509000
HLIrs397509000
Exacrs397509000
Gnomadrs397509000
Varsomers397509000
LitVarrs397509000
Maprs397509000
PheGenIrs397509000
Biobankrs397509000
1000 genomesrs397509000
hgdprs397509000
ensemblrs397509000
geneviewrs397509000
scholarrs397509000
googlers397509000
pharmgkbrs397509000
gwascentralrs397509000
openSNPrs397509000
23andMers397509000
SNPshotrs397509000
SNPdbers397509000
MSV3drs397509000
GWAS Ctlgrs397509000
Max Magnitude6

rs397509000 has merged into rs80357549

ClinVar
Risk rs397509000(AA;AA) rs397509000(A;A)
Alt rs397509000(AA;AA) rs397509000(A;A)
Reference Rs397509000(-;-)
Significance Pathogenic
Disease not provided Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN not provided Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244854_41244855dupTT; NC_000017.10:g.41244854dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000235313.1, RCV000047935.2, RCV000111919.3, RCV000484692.1,